(Q39451221)

12 September 2017

title

Identification and characterization of novel splice variants of the human EPM2A gene mutated in Lafora progressive myoclonus epilepsy (English)

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12 September 2017

Deepti Dubey

1

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12 September 2017

Rashmi Parihar

series ordinal

2

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12 September 2017

Subramaniam Ganesh

series ordinal

3

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12 September 2017

language of work or name

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19 October 2011

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12 September 2017

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12 September 2017

volume

99

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12 September 2017

issue

1

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12 September 2017

page(s)

36-43

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Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy.

12 September 2017

cites work

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Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes

7 January 2021

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Mutations in NHLRC1 cause progressive myoclonus epilepsy

7 January 2021

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Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin

7 January 2021

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The malin-laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system

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Decrypting the genome's alternative messages

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Alternative splicing modulates subcellular localization of laforin

7 January 2021

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Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy

7 January 2021

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Modulation of functional properties of laforin phosphatase by alternative splicing reveals a novel mechanism for the EPM2A gene in Lafora progressive myoclonus epilepsy

7 January 2021

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The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies.

7 January 2021

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Sorting out the complexity of SR protein functions

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Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes

7 January 2021

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Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

7 January 2021

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A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)

7 January 2021

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Mutation screening for Japanese Lafora's disease patients: identification of novel sequence variants in the coding and upstream regulatory regions of EPM2A gene

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Two overlapping reading frames in a single exon encode interacting proteins--a novel way of gene usage

7 January 2021

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XBP1 mRNA is induced by ATF6 and spliced by IRE1 in response to ER stress to produce a highly active transcription factor

7 January 2021

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7 January 2021

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7 January 2021

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Characterization of newly identified four isoforms for a putative cytosolic protein tyrosine phosphatase PTP36.

7 January 2021

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Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.

7 January 2021

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A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit.

7 January 2021

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7 January 2021

Identifiers

DOI

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12 September 2017

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